Selected Publications
Elias R, Blake A, Dean L, Flynn JS, Sachner L, Harrison L, McGee R, Nichols KE, Howard Sharp KM. Playing Russian Roulette: Parent and Adolescent Perspectives on Tumor Surveillance for Adolescents with Cancer Predisposition Syndromes. Clin Cancer Res Jun 26, 2024. doi: 10.1158/1078-0432.CCR-24-0693. Epub ahead of print. PMID: 38922635.
Blake A, Perrino MR, Morin CE, Taylor L, McGee RB, Lewis S, Hines-Dowell S, Pandey A, Turner P, Kubal M, Su Y, Tang L, Howell L, Harrison LW, Abramson Z, Schechter A, Sabin ND, Nichols KE. Performance of Tumor Surveillance for Children With Cancer Predisposition. JAMA Oncol Jun 20, 2024:e241878. doi: 10.1001/jamaoncol.2024.1878. Epub ahead of print. PMID: 38900420; PMCID: PMC11190829.
Hansford JR, Das A, McGee RB, Nakano Y, Brzezinski J, Scollon SR, Rednam SP, Schienda J, Michaeli O, Kim SY, Greer MC, Weksberg R, Stewart DR, Foulkes WD, Tabori U, Pajtler KW, Pfister SM, Brodeur GM, Kamihara J. Update on cancer predisposition syndromes and surveillance guidelines for childhood brain tumors. Clin Cancer Res Jun 3;30(11):2342-2350, 2024.
Ercan AB, Aronson M, Fernandez NR, Chang Y, Levine A, Liu ZA, Negm L, Edwards M, Bianchi V, Stengs L, Chung J, Al-Battashi A, Reschke A, Lion A, Ahmad A, Lassaletta A, Reddy AT, Al-Darraji AF, Shah AC, Van Damme A, Bendel A, Rashid A, Margol AS, Kelly BL, Pencheva B, Heald B, Lemieux-Anglin B, Crooks B, Koschmann C, Gilpin C, Porter CC, Gass D, Samuel D, Ziegler DS, Blumenthal DT, Kuo DJ, Hamideh D, Basel D, Khuong-Quang DA, Stearns D, Opocher E, Carceller F, Baris Feldman H, Toledano H, Winer I, Scheers I, Fedorakova I, Su JM, Vengoechea J, Sterba J, Knipstein J, Hansford JR, Gonzales-Santos JR, Bhatia K, Bielamowicz KJ, Minhas K, Nichols KE, Cole KA, Penney L, Hjort MA, Sabel M, Gil-da-Costa MJ, Murray MJ, Miller M, Blundell ML, Massimino M, Al-Hussaini M, Al-Jadiry MF, Comito MA, Osborn M, Link MP, Zapotocky M, Ghalibafian M, Shaheen N, Mushtaq N, Waespe N, Hijiya N, Fuentes-Bolanos N, Ahmad O, Chamdine O, Roy P, Pichurin PN, Nyman P, Pearlman R, Auer RC, Sukumaran RK, Kebudi R, Dvir R, Raphael R, Elhasid R, McGee RB, Chami R, Noss R, Tanaka R, Raskin S, Sen S, Lindhorst S, Perreault S, Caspi S, Riaz S, Constantini S, Albert S, Chaleff S, Bielack S, Chiaravalli S, Cramer SL, Roy S, Cahn S, Penna S, Hamid SA, Ghafoor T, Imam U, Larouche V, Magimairajan Issai V, Foulkes WD, Lee YY, Nathan PC, Maruvka YE, Greer MC, Durno C, Shlien A, Ertl-Wagner B, Villani A, Malkin D, Hawkins C, Bouffet E, Das A, Tabori U. Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: An International Replication Repair Deficiency Consortium cohort study. Lancet Oncol May 1;25(5):668-682, 2024.
Lee JC, Tran QT, McGee RB, Perrino MR, Upadhyaya SA, Hanzlik EM, Pytel N, Carroll AJ, Orisme W, Eldomery M, Wang L, Blackburn PR, Furtado LV, Viaene AN, Luo M, Kalish JM, Pinto SN, Bag AK, Orr BA. Atypical teratoid/rhabdoid tumour-TYR subtype arising in the setting of germline ring chromosome 22: An uncommon form of tumour predisposition. Neuropathol Appl Neurobiol Apr 1;50(2):e12971, 2024.
Hines-Dowell S, McNamara E, Mostafavi R, Taylor L, Harrison L, McGee RB, Blake AK, Lewis S, Perrino M, Mandrell B, Nichols KE. Genomes for nurses: Understanding and overcoming barriers to nurses utilizing genomics. J Pediatr Hematol Oncol Nurs Mar 1;41(2):140-147, 2024.
Howard Sharp KM, Li C, Lu Z, Clark ME, Jurbergs N, Ouma A, Harrison L, Gerhardt E, Taylor L, Hamilton KV, McGee RB, Nuccio R, Hines-Dowell S, Gattuso JS, Pritchard M, Mandrell BN, Tercyak KP, Nichols KE, Johnson LM. Parent quality of life after disclosure of pediatric oncology germline sequencing results. JCO Precis Oncol Sep 1;7:e2300159, 2023.
Blackburn PR, McGee RB, Mostafavi R, Carroll AJ, Mikhail FM, Armstrong GT, Furtado LV, Chiang J, Wheeler DA, Carey SS, Nichols KE, Upadhyaya SA. Constitutional balanced translocations involving SMARCB1: A rare cause of rhabdoid tumor predisposition syndrome. Genes Chromosomes Cancer Aug 7, 2023. doi: 10.1002/gcc.23195. Epub ahead of print. PMID: 37548271
Howard Sharp KM, Blake A, Flynn J, Brown S, Rashed J, Harrison L, McGee R, Mandrell B, Nichols KE. Adolescent and Young Adult Understanding of Their Childhood Cancer Predisposition Diagnosis: A Qualitative Study. J Pediatr 2023 Jun 4;261:113538, 2023. doi: 10.1016/j.jpeds.2023.113538. Epub ahead of print. PMID: 37279817
McGee RB, Oak N, Harrison L, Xu K, Nuccio R, Blake AK, Mostafavi R, Lewis S, Taylor LM, Kubal M, Ouma A, Hines-Dowell SJ, Cheng C, Furtado LV, Nichols KE. Pathogenic Variants in Adult-Onset Cancer Predisposition Genes in Pediatric Cancer: Prevalence and Impact on Tumor Molecular Features and Clinical Management. Clin Cancer Res. 2023 Apr 3;29(7):1243-1251. doi: 10.1158/1078-0432.CCR-22-2482. PMID: 36693186.
Das A, Sudhaman S, Morgenstern D, Coblentz A, Chung J, Stone SC, Alsafwani N, Liu ZA, Karsaneh OAA, Soleimani S, Ladany H, Chen D, Zatzman M, Cabric V, Nobre L, Bianchi V, Edwards M, Sambira Nahum LC, Ercan AB, Nabbi A, Constantini S, Dvir R, Yalon-Oren M, Campino GA, Caspi S, Larouche V, Reddy A, Osborn M, Mason G, Lindhorst S, Bronsema A, Magimairajan V, Opocher E, De Mola RL, Sabel M, Frojd C, Sumerauer D, Samuel D, Cole K, Chiaravalli S, Massimino M, Tomboc P, Ziegler DS, George B, Van Damme A, Hijiya N, Gass D, McGee RB, Mordechai O, Bowers DC, Laetsch TW, Lossos A, Blumenthal DT, Sarosiek T, Yen LY, Knipstein J, Bendel A, Hoffman LM, Luna-Fineman S, Zimmermann S, Scheers I, Nichols KE, Zapotocky M, Hansford JR, Maris JM, Dirks P, Taylor MD, Kulkarni AV, Shroff M, Tsang DS, Villani A, Xu W, Aronson M, Durno C, Shlien A, Malkin D, Getz G, Maruvka YE, Ohashi PS, Hawkins C, Pugh TJ, Bouffet E, Tabori U. Genomic predictors of response to PD-1 inhibition in children with germline DNA replication repair deficiency. Nat Med Jun 1, 2022.
Newman S, Nakitandwe J, Kesserwan CA, Azzato EM, Wheeler DA, Rusch M, Shurtleff S, Hedges DJ, Hamilton KV, Foy SG, Edmonson MN, Thrasher A, Bahrami A, Orr BA, Klco JM, Gu J, Harrison LW, Wang L, Clay MR, Ouma A, Silkov A, Liu Y, Zhang Z, Liu Y, Brady SW, Zhou X, Chang TC, Pande M, Davis E, Becksfort J, Patel A, Wilkinson MR, Rahbarinia D, Kubal M, Maciaszek JL, Pastor V, Knight J, Gout AM, Wang J, Gu Z, Mullighan CG, McGee RB, Quinn EA, Nuccio R, Mostafavi R, Gerhardt EL, Taylor LM, Valdez JM, Hines-Dowell SJ, Pappo AS, Robinson G, Johnson LM, Pui CH, Ellison DW, Downing JR, Zhang J, Nichols KE. Genomes for Kids: The scope of pathogenic mutations in pediatric cancer revealed by comprehensive DNA and RNA sequencing. Cancer Discov July 23, 2021.
Durno C, Ercan AB, Bianchi V, Edwards M, Aronson M, Galati M, Atenafu EG, Abebe-Campino G, Al-Battashi A, Alharbi M, Azad VF, Baris HN, Basel D, Bedgood R, Bendel A, Ben-Shachar S, Blumenthal DT, Blundell M, Bornhorst M, Bronsema A, Cairney E, Rhode S, Caspi S, Chamdin A, Chiaravalli S, Constantini S, Crooks B, Das A, Dvir R, Farah R, Foulkes WD, Frenkel Z, Gallinger B, Gardner S, Gass D, Ghalibafian M, Gilpin C, Goldberg Y, Goudie C, Hamid SA, Hampel H, Hansford JR, Harlos C, Hijiya N, Hsu S, Kamihara J, Kebudi R, Knipstein J, Koschmann C, Kratz C, Larouche V, Lassaletta A, Lindhorst S, Ling SC, Link MP, Loret De Mola R, Luiten R, Lurye M, Maciaszek JL, MagimairajanIssai V, Maher OM, Massimino M, McGee RB, Mushtaq N, Mason G, Newmark M, Nicholas G, Nichols KE, Nicolaides T, Opocher E, Osborn M, Oshrine B, Pearlman R, Pettee D, Rapp J, Rashid M, Reddy A, Reichman L, Remke M, Robbins G, Roy S, Sabel M, Samuel D, Scheers I, Schneider KW, Sen S, Stearns D, Sumerauer D, Swallow C, Taylor L, Thomas G, Toledano H, Tomboc P, Van Damme A, Winer I, Yalon M, Yen LY, Zapotocky M, Zelcer S, Ziegler DS, Zimmermann S, Hawkins C, Malkin D, Bouffet E, Villani A, Tabori U. Survival benefit for individuals with constitutional mismatch repair deficiency undergoing surveillance. J Clin Oncol May 4;JCO2002636, 2021. doi: 10.1200/JCO.20.02636. Online ahead of print.
Murray AK, McGee RB, Mostafavi RM, Wang X, Lu Z, Valdez JM, Terao MA, Nichols KE. Creating a cancer genomics curriculum for pediatric hematology-oncology fellows: A national needs assessment. Cancer Med Feb 23, 2021.
Aronson M, Colas C, Shuen A, Hampel H, Foulkes WD, Baris Feldman H, Goldberg Y, Muleris M, Wolfe Schneider K, McGee RB, Jasperson K, Rangaswami A, Brugieres L, Tabori U. Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): Recommendations from the international consensus working group. Med Genet Feb 23, 2021.
Tutor JD, Miller SF, Al Zubeidi H, Sheyn A, Zhang J, Williams R, McGee RB. Lung cyst and multinodular thyroid goiter: Keys to DICER1 syndrome diagnosis in a 16-year-old female. Clin Case Rep Jul 17;8(12):2373-2376, 2020. doi: 10.1002/ccr3.3098. eCollection Dec. 2020.
Guo H, Zhang Q, Dai R, Yu B, Hoekzema K, Tan J, Tan S, Jia X, Chung WK, Hernan R, Alkuraya FS, Alsulaiman A, Al-Muhaizea MA, Lesca G, Pons L, Labalme A, Laux L, Bryant E, Brown NJ, Savva E, Ayres S, Eratne D, Peeters H, Bilan F, Letienne-Cejudo L, Gilbert-Dussardier B, Ruiz-Arana IL, Merlini JM, Boizot A, Bartoloni L, Santoni F, Karlowicz D, McDonald M, Wu H, Hu Z, Chen G, Ou J, Brasch-Andersen C, Fagerberg CR, Dreyer I, Chun-Hui Tsai A, Slegesky V, McGee RB, Daniels B, Sellars EA, Carpenter LA, Schaefer B, Sacoto MJG, Begtrup A, Schnur RE, Punj S, Wentzensen IM, Rhodes L, Pan Q, Bernier RA, Chen C, Eichler EE, Xia K. NCKAP1 disruptive variants lead to a neurodevelopmental disorder with core features of autism. Am J Hum Genet Nov 5;107(5):963-976, 2020. doi: 10.1016/j.ajhg.2020.10.002.
Howard Sharp KM, Jurbergs N, Ouma A, Harrison L, Gerhardt E, Taylor L, Hamilton K, McGee RB, Nuccio R, Quinn E, Hines-Dowell S, Kesserwan C, Sunkara A, Gattuso JS, Pritchard M, Mandrell B, Relling MV, Haidar CE, Kang G, Johnson LM, Nichols KE. Factors associated with declining to participate in a pediatric oncology next generation sequencing study. JCO Precis Oncol 4:202-211, 2020. doi: 10.1200/PO.19.00213. Epub Mar 24, 2020.
Maciaszek JL, Oak N, Chen W, Hamilton KV, McGee RB, Nuccio R, Mostafavi R, Hines-Dowell S, Harrison L, Taylor L, Gerhardt EL, Ouma A, Edmonson MN, Patel A, Nakitandwe J, Pappo AS, Azzato EM, Shurtleff SA, Ellison DW, Downing JR, Hudson MM, Robison LL, Santana V, Newman S, Zhang J, Wang Z, Wu G, Nichols KE, Kesserwan CA. Enrichment of heterozygous germline RECQL4 loss-of-function variants in pediatric osteosarcoma. Cold Spring Harb Mol Case Stud Oct 23;5(5):a004218, 2019. doi: 10.1101/mcs.a004218. Print Oct 2019.
Johnson LM, Sykes AD, Lu Z, Valdez JM, Gattuso J, Gerhardt E, Hamilton KV, Harrison LW, Hines‐Dowell SJ, Jurbergs N, McGee RB, Nuccio R, Ouma AA, Pritchard M, Quinn EA, Baker JN, Mandrell BN, Nichols KE. Speaking genomics to parents offered germline testing for cancer predisposition: Use of a 2‐visit consent model. Cancer. 2019 Jul 15;125(14):2455-2464 2019
Burges M, King B, McGee R, Brennan R& Wilson M. Unilateral retinoblastoma in a patient with Hermansky-Pudlak syndrome, Ophthalmic Genetics, 40:1, 83-85, 2019.
Rusch M, Nakitandwe J, Shurtleff S, Newman S, Zhang Z, Edmonson MN, Parker M, Jiao Y, Ma X, Liu Y, Gu J, Walsh MF, Becksfort J, Thrasher A, Li Y, McMurry J, Hedlund E, Patel A, Easton J, Yergeau D, Vadodaria B, Tatevossian RG, Raimondi S, Hedges D, Chen X, Hagiwara K, McGee R, Robinson GW, Klco JM, Gruber TA, Ellison DW, Downing JR, Zhang J. Clinical cancer genomic profiling by three-platform sequencing of whole genome, whole exome and transcriptome. Nature Communications 9, 3962 (2018) doi:10.1038/s41467-018-06485-7, 2018.
Upadhyaya SA, McGee RB, Wilky BA, Broniscer A. Malignant progression of a peripheral nerve sheath tumor in the setting of rhabdoid tumor predisposition syndrome. Pediatr Blood Cancer 65:e27030-, 2018.
Lucas JT, McGee R, Billups CA, Qaddoumi I, Merchant TE, Brennan RC, Wu J, Wilson MW. Prior non-irradiative focal therapies do not compromise the efficacy of delayed episcleral plaque brachytherapy in retinoblastoma. Br J Ophthalmol 2018.
Schwartz JR, Wang S, Ma J, Lamprecht T, Walsh M, Song G, Raimondi SC, Wu G, Walsh MF, McGee RB, Kesserwan C, Nichols KE, Cauff BE, Ribeiro RC, Wlodarski M, Klco JM. Germline SAMD9 mutation in siblings with monosomy 7 and myelodysplastic syndrome. Leukemia 31:1827-1830, 2017.
Druker H, Zelley K, McGee RB, Scollon SR, Kohlmann WK, Schneider KA, Wolfe Schneider K. Genetic Counselor Recommendations for Cancer Predisposition Evaluation and Surveillance in the Pediatric Oncology Patient. Clin Cancer Res 23:e91-e97, 2017.
Johnson LM, Valdez JM, Quinn EA, Sykes AD, McGee RB, Nuccio R, Hines-Dowell SJ, Baker JN, Kesserwan C, Nichols KE, Mandrell BN. Integrating next-generation sequencing into pediatric oncology practice: An assessment of physician confidence and understanding of clinical genomics. Cancer 123:2352-2359, 2017.
Schultz KAP, Rednam SP, Kamihara J, Doros L, Achatz MI, Wasserman JD, Diller LR, Brugieres L, Druker H, Schneider KA, McGee RB, Foulkes WD. PTEN, DICER1, FH, and their associated tumor susceptibility syndromes: Clinical features, genetics, and surveillance recommendations in childhood. Clin Cancer Res 23:e76-e82, 2017.
Kratz CP, Achatz MI, Brugieres L, Frebourg T, Garber JE, Greer MC, Hansford JR, Janeway KA, Kohlmann WK, McGee R, Mullighan CG, Onel K, Pajtler KW, Pfister SM, Savage SA, Schiffman JD, Schneider KA, Strong LC, Evans DGR, Wasserman JD, Villani A, Malkin D. Cancer screening recommendations for individuals with Li-Fraumeni syndrome. Clin Cancer Res 23:e38-e45, 2017.
McGee RB, Nichols KE. Introduction to cancer genetic susceptibility syndromes. Hematology Am Soc Hematol Educ Program Dec 2;2016(1):293-301, 2016.
Alexander TB, McGee RB, Kaye EC, McCarville MB, Choi JK, Cavender CP, Nichols KE, Sandlund JT. Metachronous T-Lymphoblastic Lymphoma and Burkitt Lymphoma in a Child With Constitutional Mismatch Repair Deficiency Syndrome. Pediatr Blood Cancer Aug;63(8):1454-6, 2016.
Davidson JT, Lam CG, McGee RB, Bahrami A, Diaz-Thomas A. Parathyroid Cancer in the Pediatric Patient. J Pediatr Hematol Oncol Jan;38(1):32-7, 2016.
Topka S, Vijai J, Walsh MF, Jacobs L, Maria A, Villano D, Gaddam P, Wu G, McGee RB, Quinn E, Inaba H, Hartford C, Pui CH, Pappo A, Edmonson M, Zhang MY, Stepensky P, Steinherz P, Schrader K, Lincoln A, Bussel J, Lipkin SM, Goldgur Y, Harit M, Stadler ZK, Mullighan C, Weintraub M, Shimamura A, Zhang J, Downing JR, Nichols KE, Offit K. Germline ETV6 Mutations Confer Susceptibility to Acute Lymphoblastic Leukemia and Thrombocytopenia. PLoS Genet Jun 23;11(6):e1005262, 2015.
Quinn E, McGee R, Nuccio R, Pappo AS, Nichols KE. Genetic Predisposition to Neonatal Tumors. Curr Pediatr Rev 2015;11(3):164-78. Review.
Zhang J*, Walsh MF*, Wu G*, Edmonson MN, Gruber TA, Easton J, Hedges D, Ma X, Zhou X, Yergeau DA, Wilkinson MR, Vadodaria B, Chen X, McGee RB, Hines-Dowell S, Nuccio R, Quinn E, Shurtleff SA, Rusch M, Patel A, Becksfort JB, Wang S, Weaver MS, Ding L, Mardis ER, Wilson RK, Gajjar A, Ellison DW, Pappo AS, Pui CH, Nichols KE*, Downing JR. Germline Mutations in Predisposition Genes in Pediatric Cancer. N Engl J Med Nov 18, 2015. Epub ahead of print. doi:10.1056/NEJMoa1508054. *Equal contribution
Last update: August 2024